tenascin-X deficiency

(redirected from Ehlers-Danlos-like syndrome due to tenascin-X deficiency)

tenascin-X deficiency

A clinically distinct autosomal recessive (OMIM:606408) Ehlers-Danlos-like condition characterised by hyperextensible skin, hypermobile joints and tissue fragility. These patients lack atrophic scars—a major diagnostic criteria for classic Ehlers-Danlos syndrome (EDS); delayed wound healing, a feature of classic EDS, is only present in some patients.

Molecular pathology
Defects of TNXB, which encodes an extracellular matrix glycoprotein of the tensacin family, cause Ehlers-Danlos-like syndrome.